Management of Intersexuality

Written by Milton Diamond, Ph.D. and H. Keith Sigmundson, M.D.

Guidelines for dealing with individuals with ambiguous genitalia

by Milton Diamond, Ph.D. and H. Keith Sigmundson, M.D.

from the Archives of Pediatrics and Adolescent Medicine

Following publication of our paper on a classic case of sex reassignment [1] the media attention was rapid and widespread e.g., [2-4] and so too the reaction of many clinicians.

Some wanted to comment or ask questions but many contacted us directly or indirectly [e.g., [5] asking for specific guidelines on how to manage cases of traumatized or ambiguous genitalia.

Below we offer our suggestions. We first, however, add this caveat: These recommendations are based on our experiences, the input of some trusted colleagues, the comments of intersexed persons of various etiologies and the best interpretation of our reading of the literature. Some of these suggestions are contrary to today's common management procedures. We believe, however, that many of those procedures should be modified. These guidelines are not offered lightly. We anticipate that time and experience will dictate that some aspects be changed and such revisions will improve the next set of guidelines to be offered. Underlying our presentation is the key belief that the patients themselves must be involved in any decision as to something so crucial to their lives. We accept that not every one will welcome this opportunity or these suggestions.

GUIDELINES

Foremost, we advocate use of the terms "typical," "usual," or "most frequent" where it is more common to use the term "normal." When possible avoid expressions like maldeveloped or undeveloped, errors of development, defective genitals, abnormal, or mistakes of nature. Emphasize that all of these conditions are biologically understandable while they are statistically uncommon. It helps in discussion with parents and child that they come to accept the genital condition as normal although atypical. Individuals with these genitalia are not freaks but biological varieties commonly referred to as intersexes. Indeed, it is our understanding of natural diversity that a wide offering of sex types and associated etiologies should be anticipated (see e.g., [6, 7] ). Our overall theme is to destigmatize the conditions.

1) In all cases of ambiguous genitalia, to establish most probable cause, do a complete history and physical. The physical must include careful evaluation of the gonads and the internal as well as external genital structures. Genetic and endocrine evaluations are usually needed and interpretation can require the assistance of a pediatric endocrinologist, radiologist and urologist. Pelvic ultrasonography and genitography may be required. Do not hesitate to seek expert help; a team effort is best. The history must include assessment of the immediate and extended family.

Be rapid in this decision making but take as much time as needed. Hospitals should have established House Staff Operating Procedures to be followed in such cases. Many consider this a medical emergency (and in cases of electrolyte imbalance this may be immediately so) nevertheless, we believe that most doubt should be resolved before a final determination is made. We simultaneously advise that all births be accompanied by a full genital inspection. Many cases of intersex go undetected.

2) Immediately, and simultaneously with the above, advise parents of the reasons for the delay. Full and honest disclosure is best and counseling must start directly. Insure that the parents understand this condition is a natural variety of intersex that is uncommon or rare but not unheard of. Convey strongly to the parents that they are not at fault for the development and the child can have a full, productive and happy life. Repeat this counseling at the next opportunity and as often as needed.

3) The child's condition is nothing to be ashamed of but it is also nothing to be broadcast as a hospital curiosity. The child and family confidentiality must be respected.

4) In the most common cases, those of hypospadias and congenital adrenal hyperplasia (C.A.H.) diagnosis should be rapid and clear. In other situations, with a known diagnosis, declare sex based on the most likely outcome for the child involved. Encourage the parents to accept this as best; their desire as to sex of assignment is secondary. The child remains the patient. When assignment is based on the most likely outcome, most children will adapt and accept their gender assignment and it will coincide with their sexual identity.

5) The sex of assignment, when based on the nature of the diagnosis rather than only considering the size or functionality of the phallus, respects the idea that the nervous system involved in adult sexuality has been influenced by genetic and endocrine events that will most likely become manifest with or after puberty. In the majority of cases this sex of assignment will indeed be in concert with the appearance of the genitalia (e.g., in A.I.S. [8] . In certain childhood situations, however, such assignment will be counter to the genital appearance (e.g., for reductase deficiency [9] . Our concern is primarily how the individual will develop and prefer to live post puberty when he or she becomes most sexually active.